A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728285



Internal ID10311921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126100827..126101003hg38UCSC Ensembl
Outerchr4:127021982..127022158hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869393, essv6942876
SamplesSSM023, SSM090
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728285
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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